Mutagenetix > Incidental Mutation

Incidental Mutation 'R8993:Slc5a4a'

684557

Institutional Source

Beutler Lab

Gene Symbol

Slc5a4a

Ensembl Gene

ENSMUSG00000020229

Gene Name

solute carrier family 5, member 4a

Synonyms

MMRRC Submission

068824-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R8993 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76147451-76189265 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76186535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 568 (E568V)

Ref Sequence

ENSEMBL: ENSMUSP00000020450 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020450]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020450
AA Change: E568V

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020450
Gene: ENSMUSG00000020229
AA Change: E568V

Domain	Start	End	E-Value	Type
transmembrane domain	26	48	N/A	INTRINSIC
Pfam:SSF	58	492	4e-161	PFAM
transmembrane domain	526	548	N/A	INTRINSIC
transmembrane domain	636	655	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700069L16Rik	A	T	5: 113,703,781 (GRCm38)	C92*	probably null	Het
A830018L16Rik	G	T	1: 11,545,267 (GRCm38)	E155*	probably null	Het
Acaa1a	A	T	9: 119,349,352 (GRCm38)		probably null	Het
Adcy4	T	C	14: 55,771,378 (GRCm38)	E864G	probably null	Het
Adcy4	T	C	14: 55,778,699 (GRCm38)	D387G	probably damaging	Het
Ank1	C	T	8: 23,098,939 (GRCm38)	H574Y	probably damaging	Het
Arhgef16	C	T	4: 154,287,038 (GRCm38)	E233K	probably damaging	Het
Arhgef26	A	T	3: 62,448,104 (GRCm38)	Y699F	probably benign	Het
BB014433	C	T	8: 15,042,101 (GRCm38)	V251M	probably damaging	Het
Bcan	G	A	3: 87,994,222 (GRCm38)	A391V	probably benign	Het
Bod1l	A	C	5: 41,816,867 (GRCm38)	V2368G	probably benign	Het
Braf	A	G	6: 39,662,151 (GRCm38)	V222A	probably damaging	Het
Cd33	G	T	7: 43,533,447 (GRCm38)		probably benign	Het
Cdkl2	T	A	5: 92,022,151 (GRCm38)	K324N	probably damaging	Het
Celf6	A	T	9: 59,602,871 (GRCm38)	T199S	probably damaging	Het
Cmtm4	A	C	8: 104,355,166 (GRCm38)	D196E	probably benign	Het
Cntn1	G	A	15: 92,234,466 (GRCm38)	V148M	probably damaging	Het
Col1a2	C	A	6: 4,535,451 (GRCm38)	P921H	unknown	Het
Crmp1	T	C	5: 37,242,146 (GRCm38)	M1T	probably null	Het
Dnah7a	A	T	1: 53,504,103 (GRCm38)	Y2303N	probably damaging	Het
Dock10	G	T	1: 80,574,171 (GRCm38)	T650K	probably benign	Het
Fam24a	A	G	7: 131,336,540 (GRCm38)	D53G	probably benign	Het
Foxa2	A	T	2: 148,044,706 (GRCm38)	M69K	probably benign	Het
Gatad2a	T	A	8: 69,909,935 (GRCm38)	H601L	probably damaging	Het
Gimap4	A	C	6: 48,690,605 (GRCm38)	D98A	probably damaging	Het
Gm14295	G	T	2: 176,809,830 (GRCm38)	R371L	possibly damaging	Het
Gm5039	A	G	12: 88,321,400 (GRCm38)	F28L	probably benign	Het
Golim4	G	T	3: 75,878,128 (GRCm38)	A652E	probably benign	Het
Grid1	A	G	14: 35,026,942 (GRCm38)	I240V	probably benign	Het
Iqsec3	T	A	6: 121,413,313 (GRCm38)	T400S	unknown	Het
Itk	G	A	11: 46,334,908 (GRCm38)	R539C	probably damaging	Het
Kdelc1	G	T	1: 44,112,764 (GRCm38)	L322I	possibly damaging	Het
Kif27	T	A	13: 58,326,098 (GRCm38)	D695V	possibly damaging	Het
Krt79	T	C	15: 101,931,006 (GRCm38)		probably benign	Het
Lama2	C	A	10: 27,422,714 (GRCm38)	V129L	possibly damaging	Het
Lonrf1	C	A	8: 36,229,238 (GRCm38)	E552D	possibly damaging	Het
Mpp3	A	G	11: 102,000,665 (GRCm38)	I549T	probably benign	Het
Nat1	T	C	8: 67,491,742 (GRCm38)	Y260H	probably benign	Het
Nipal2	T	A	15: 34,648,837 (GRCm38)	K69*	probably null	Het
Nlrx1	G	T	9: 44,256,941 (GRCm38)		probably benign	Het
Pde1b	C	A	15: 103,521,425 (GRCm38)	A115E	probably benign	Het
Pde4dip	A	G	3: 97,766,494 (GRCm38)	Y369H	probably damaging	Het
Pnpla7	A	G	2: 25,053,419 (GRCm38)	Y1286C	possibly damaging	Het
Pramel5	T	C	4: 144,272,959 (GRCm38)	E186G	possibly damaging	Het
Qdpr	C	T	5: 45,450,044 (GRCm38)	G20D	probably damaging	Het
Rmnd1	T	G	10: 4,407,918 (GRCm38)	I364L	probably benign	Het
Slc6a18	T	A	13: 73,668,271 (GRCm38)	I330F	probably benign	Het
Spesp1	T	C	9: 62,273,270 (GRCm38)	T119A	possibly damaging	Het
Sypl	G	A	12: 32,975,663 (GRCm38)	S242N	probably benign	Het
Tbx18	G	A	9: 87,730,717 (GRCm38)	T43M	probably benign	Het
Tm7sf2	T	A	19: 6,063,926 (GRCm38)	D263V	probably damaging	Het
Trbv21	T	C	6: 41,202,990 (GRCm38)	I80T	probably damaging	Het
Ttc3	T	A	16: 94,427,808 (GRCm38)	L747Q	possibly damaging	Het
Ttll11	T	C	2: 35,817,801 (GRCm38)	D498G	possibly damaging	Het
Ttn	T	C	2: 76,753,370 (GRCm38)	Y22431C	probably null	Het
Ubtfl1	T	A	9: 18,410,341 (GRCm38)	S388R		Het
Vmn2r118	A	T	17: 55,610,835 (GRCm38)	L226I	possibly damaging	Het
Wdr46	A	G	17: 33,949,182 (GRCm38)	H576R	probably benign	Het
Zfp426	A	G	9: 20,475,000 (GRCm38)	F62L	probably damaging	Het

Other mutations in Slc5a4a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00670:Slc5a4a	APN	10	76,163,733 (GRCm38)	missense	probably damaging	1.00
IGL01725:Slc5a4a	APN	10	76,181,674 (GRCm38)	missense	probably benign	0.00
IGL02629:Slc5a4a	APN	10	76,147,579 (GRCm38)	missense	unknown
IGL02976:Slc5a4a	APN	10	76,170,693 (GRCm38)	missense	possibly damaging	0.67
IGL03255:Slc5a4a	APN	10	76,150,512 (GRCm38)	missense	probably damaging	1.00
IGL03258:Slc5a4a	APN	10	76,150,552 (GRCm38)	missense	possibly damaging	0.81
R0054:Slc5a4a	UTSW	10	76,178,197 (GRCm38)	missense	probably null	0.00
R0244:Slc5a4a	UTSW	10	76,189,152 (GRCm38)	missense	possibly damaging	0.46
R0398:Slc5a4a	UTSW	10	76,182,722 (GRCm38)	missense	possibly damaging	0.46
R0799:Slc5a4a	UTSW	10	76,176,534 (GRCm38)	missense	probably benign	0.00
R1160:Slc5a4a	UTSW	10	76,178,161 (GRCm38)	missense	possibly damaging	0.52
R1471:Slc5a4a	UTSW	10	76,186,528 (GRCm38)	missense	probably damaging	0.99
R1720:Slc5a4a	UTSW	10	76,189,269 (GRCm38)	splice site	probably null
R1857:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1858:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1859:Slc5a4a	UTSW	10	76,166,735 (GRCm38)	missense	probably benign	0.27
R1942:Slc5a4a	UTSW	10	76,147,588 (GRCm38)	missense	unknown
R2016:Slc5a4a	UTSW	10	76,153,580 (GRCm38)	missense	probably benign	0.00
R2316:Slc5a4a	UTSW	10	76,178,081 (GRCm38)	splice site	probably null
R3420:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3421:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3422:Slc5a4a	UTSW	10	76,176,573 (GRCm38)	missense	probably benign	0.00
R3845:Slc5a4a	UTSW	10	76,189,149 (GRCm38)	missense	probably damaging	0.99
R3874:Slc5a4a	UTSW	10	76,181,655 (GRCm38)	missense	probably benign	0.42
R4523:Slc5a4a	UTSW	10	76,148,362 (GRCm38)	missense	probably damaging	0.99
R4537:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4538:Slc5a4a	UTSW	10	76,178,095 (GRCm38)	nonsense	probably null
R4755:Slc5a4a	UTSW	10	76,186,564 (GRCm38)	missense	probably benign	0.00
R4868:Slc5a4a	UTSW	10	76,178,231 (GRCm38)	missense	probably damaging	0.98
R5135:Slc5a4a	UTSW	10	76,147,594 (GRCm38)	missense	unknown
R5254:Slc5a4a	UTSW	10	76,182,738 (GRCm38)	nonsense	probably null
R6083:Slc5a4a	UTSW	10	76,147,597 (GRCm38)	missense	unknown
R6331:Slc5a4a	UTSW	10	76,178,200 (GRCm38)	missense	probably damaging	0.98
R7591:Slc5a4a	UTSW	10	76,147,667 (GRCm38)	critical splice donor site	probably benign
R7671:Slc5a4a	UTSW	10	76,147,550 (GRCm38)	missense	unknown
R8785:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R8929:Slc5a4a	UTSW	10	76,170,783 (GRCm38)	missense	probably benign	0.27
R9018:Slc5a4a	UTSW	10	76,166,712 (GRCm38)	missense	possibly damaging	0.67
R9474:Slc5a4a	UTSW	10	76,150,404 (GRCm38)	critical splice acceptor site	probably benign
R9567:Slc5a4a	UTSW	10	76,186,562 (GRCm38)	missense	probably benign	0.08
R9648:Slc5a4a	UTSW	10	76,166,774 (GRCm38)	missense	probably damaging	1.00
Z1177:Slc5a4a	UTSW	10	76,182,847 (GRCm38)	nonsense	probably null
Z1177:Slc5a4a	UTSW	10	76,166,744 (GRCm38)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGACCTCCCATTGCAATC -3'
(R):5'- TCAGCAGGCTGTATTGATATACTTG -3'

Sequencing Primer
(F):5'- GCAATCTATAATACTCTTCCGTGCAG -3'
(R):5'- AGGCTGTAATTCATGGGAGGG -3'

Posted On

2021-10-11